MED and Pseudoachondroplasia genes (Homo sapiens)

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1Collagen IIMATN1COMPCOL9A1COL9A2COL9A3MATN3COL9A1COL9A2COL9A3Collagen IICOL9A1COL9A2COL9A3COMPCOL9A1COL9A2COL9A3COL9A1COL9A2COL9A3COL9A1COL9A2COL9A3MATN1MATN3Collagen IIOMIM:614284Stickler Syndrome, Type VOMIM:177170PseudoachondroplasiaOMIM:614134Stickler Syndrome, Type IVOMIM:120270Collagen, Type IX, Alpha-3OMIM:607078Epiphyseal Dysplasia, Multiple, 5OMIM:614135Epiphyseal Dysplasia, Multiple, 6OMIM:608728Spondyloepimetaphyseal Dysplasia, Matrilin-3 RelatedOMIM:132400Epiphyseal Dysplasia, Multiple, 1OMIM:600204Epiphyseal Dysplasia, Multiple, 2OMIM:600969Epiphyseal Dysplasia, Multiple, 3


Description

Adapted from: Genetic mouse models for the functional analysis of the perifibrillar components collagen IX, COMP and matrilin-3: Implications for growth cartilage differentiation and endochondral ossification by Frank Zaucke and Susanne Grässel [1].

Model for supramolecular assembly of cartilage fibrils and filaments into fibrillar networks: Matrilin-3 and COMP act as adaptor molecules to interconnect D-periodically banded fibrils with each other and/or with collagen VI beaded filaments to generate a heterotypic fibrillar network. The interaction may be mediated either by matrilin-1 / -3 binding directly to collagen IX or via COMP, which associates with the NC domains of collagen IX.

Linked with a dotted arrow to the GeneProduct nodes are diseases caused by mutation in the respective gene.

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Ontology Terms

 

Bibliography

  1. Zaucke F, Grässel S; ''Genetic mouse models for the functional analysis of the perifibrillar components collagen IX, COMP and matrilin-3: Implications for growth cartilage differentiation and endochondral ossification.''; Histol Histopathol, 2009 PubMed Europe PMC Scholia

History

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CompareRevisionActionTimeUserComment
110638view09:27, 23 May 2020AzanklModified description
109081view09:44, 16 February 2020FehrhartOntology Term : 'pseudoachondroplasia' added !
109080view09:44, 16 February 2020FehrhartOntology Term : 'disease pathway' added !
108992view00:44, 13 February 2020Khansperschanged board size
108836view01:08, 1 February 2020RleeModified description
108835view01:07, 1 February 2020RleeRemoved extra DataNode
108834view01:05, 1 February 2020RleeNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
COL9A1GeneProductENSG00000112280 (Ensembl)
COL9A2GeneProductENSG00000049089 (Ensembl)
COL9A3GeneProductENSG00000092758 (Ensembl)
COMPGeneProductENSG00000105664 (Ensembl)
MATN1GeneProductENSG00000162510 (Ensembl)
MATN3GeneProductENSG00000132031 (Ensembl)

Annotated Interactions

No annotated interactions

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